Homozygous Familial Hypercholesterolemia (HoFH) is characterized by which combination?

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Multiple Choice

Homozygous Familial Hypercholesterolemia (HoFH) is characterized by which combination?

Homozygous Familial Hypercholesterolemia shows an extremely high cholesterol burden from birth due to defective LDL receptor activity, so the lipid profile is dominated by very high LDL-C and total cholesterol. The hallmark combination is plasma total cholesterol well above 500 mg/dL, with visible xanthomas (often tendon xanthomas) and signs of accelerated, premature atherosclerotic cardiovascular disease. This reflects lifelong, profound exposure of tissues to LDL cholesterol, leading to lipid deposits in skin and tendons and early vascular disease. Other patterns don’t fit: a low cholesterol level with no xanthomas would not suggest familial hypercholesterolemia; a profile with high HDL and low triglycerides isn’t characteristic of HoFH; and a normal lipid profile would not explain the clinical features.

Homozygous Familial Hypercholesterolemia shows an extremely high cholesterol burden from birth due to defective LDL receptor activity, so the lipid profile is dominated by very high LDL-C and total cholesterol. The hallmark combination is plasma total cholesterol well above 500 mg/dL, with visible xanthomas (often tendon xanthomas) and signs of accelerated, premature atherosclerotic cardiovascular disease. This reflects lifelong, profound exposure of tissues to LDL cholesterol, leading to lipid deposits in skin and tendons and early vascular disease.

Other patterns don’t fit: a low cholesterol level with no xanthomas would not suggest familial hypercholesterolemia; a profile with high HDL and low triglycerides isn’t characteristic of HoFH; and a normal lipid profile would not explain the clinical features.

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